-
Article
Nicht kodierende Ribonukleinsäure im kardiovaskulären System
Die Entdeckung regulatorischer nicht kodierender Ribonukleinsäuremoleküle (ncRNA) revolutionierte unser bisheriges Verständnis der Genexpression. Wie umfangreiche Sequenzierprojekte aus jüngerer Zeit zeigten, ...
-
Article
Open AccessMitochondrial genetic variants identified to be associated with posttraumatic stress disorder
Despite the fact that mitochondrial dysfunctions are increasingly recognized as key components in stress-related mental disorders, very little is known about the association between posttraumatic stress disord...
-
Article
Open AccessMigraine without aura: genome-wide association analysis identifies several novel susceptibility
-
Article
A KATP channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila
Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with metabolic syndrome and psychiatric disorders suggests that...
-
Article
Mitochondriale Erkrankungen
-
Article
Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)
Das mitoNET wurde als interdisziplinäres, deutschlandweites Netzwerk mit dem Ziel konzipiert, eine Verbesserung der Patientenversorgung auf dem Gebiet der mitochondrialen Erkrankungen zu erreichen. Das horizon...
-
Article
Exomdiagnostik verändert die Sicht auf Mitochondriopathien
Indem die molekulargenetische Untersuchung vieler Gene (Gen-Panels bzw. Exomanalyse) immer günstiger wird, steht deren Anwendung in der klinischen Praxis bevor. Dies wird insbesondere den Bereich solcher monog...
-
Article
Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing
Genetic lesions are crucial for cancer initiation. Recently, whole genome sequencing, using next generation technology, was used as a systematic approach to identify mutations in genomes of various types of tu...
-
Article
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes
Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies...
-
Article
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p
Partial monosomy 10p is a rare chromosomal aberration. Patients often show symptoms of the DiGeorge/velocardiofacial syndrome spectrum. The phenotype is the result of haploinsufficiency of at least two regions...
-
Article
LEOPARD-Syndrom mit Iris-Netzhaut-Aderhaut-Kolobom Diskordanter Befund bei monozygoten Zwillingen (MIM # 151 100)
-
Article
Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the b-myosin heavy chain gene and cardiac arrest in childhood A case report and family study
Die hypertrophe Kardiomyopathie (HCM) ist eine Erkrankung des Myokards mit variablem Geno- und Phänotyp. Um zu zeigen, dass die Mutation Arg719Trp ein Risikofaktor bedeutet und mit einer apikalen HCM (AHCM) ei...
-
Chapter
Medizinische Genetik
Laboruntersuchungen in der Medizinischen Genetik gehen auf die Arbeiten Sir Archibald Garrods zurück, der zu Beginn dieses Jahrhunderts seine Studien über seltene Stoffwechseldefekte wie z. B. die Alkaptonurie...
-
Chapter and Conference Paper
Somatic gene therapy in animal models of Parkinson’s disease
Gene therapy in Parkinson’s disease (PD) emerged about 10 years ago but until now, no clinical trials are under way, because most approaches have failed to show long-term therapeutic effects in PD animal model...
-
Article
Geographic distribution and origin of CFTR mutations in Germany
The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromos...
-
Article
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)
X-linked retinitis pigmentosa (xIRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xIRR RP3, has been localised to the interval between CY...
-
Article
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
X–linked hypophosphatemic rickets (HYP) is a dominant disorder characterised by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in t...
-
Chapter and Conference Paper
Homozygoter Antithrombin III-Mangel bei einem Kleinkind als Ursache schwerer arterieller und venöser Thromboembolien
Homozygoter Antithrombin III (AT III)-Mangel ist selten und galt früher als Letalfaktor. Bisher sind nur sieben gesicherte Fälle beschrieben. Darüber hinaus kann man ihn retrospektiv bei ganz vereinzelten früh...
-
Article
Mutation analysis in the diagnosis of cystic fibrosis
Since the characterization of the gene encoding the cystic fibrosis transmembrane conductance regulator protein and identification of its main mutation, ΔF508, causing cystic fibrosis (CF), more than 150 mutat...
-
Article
Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome
Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlap** fragments of the Xcen-Xp11.4 interval. This region of the human X ...
